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The connection between rare diseases and common diseases: dysfunction of copper homeostasis and mitochondria as a model (NeuroCopper)

18th national competition for scientific and technical research

Rare diseases

Senior Researcher : Francesc Palau Martínez

Research Centre or Institution : Instituto de Investigación Sanitaria Sant Joan de Déu y Hospital Sant Joan de Déu. Barcelona.


The NeuroCopper project studies  cellular and molecular mechanisms related to the dysfunction of copper metabolism and mitochondria in Menkes disease (MD)/ATP7A gene, Wilson's disease (WD)/ATP7B gene and Parkinson's disease (PD) familiar PARK1/SCNA gene. The objective is to determine the common and uncommon pathophysiological mechanisms in relation to copper homeostasis and mitochondrial function in two rare diseases (MD and WD) and in PD. The main results are:

Cell line models: HBEC-5i (BBB cells): ATP7A and ATP7B are found in the Golgi Network. These cells are refractory to treatment with CuHis. SH-SY5Y (Neuron-like cells): ATP7A and ATP7B are located in the Golgi Network and respond to treatment with CuHis.

Patients’ fibroblasts: ATP7A & ATP7B are located in the Golgi Network and respond to treatment with CuHis and the copper chelator BCS.

Menkes Disease and Occipital Horn Syndrome (ATP7A): We observed (i) abnormal ATP7A and/or ATP7B levels, mitochondrial oxidative stress, altered mitochondrial membrane potential, cell oxidative stress; and (ii) differences in some cellular phenotypes between boys and girls, in twins (phenotype/genotype relationship), between MD and OHS, and a possible compensation of ATP7B.

Wilson Disease (ATP7B): Normal ATP7A and ATP7B levels, mitochondrial oxidative stress, normal mitochondrial membrane potential, no cell oxidative stress.


Scientific Production
Magazine Articles 1
Communications at national conferences 1
Communications at international conferences -


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